The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia
Open accessAbstract
Here we perform whole-exome sequencing of samples from 105 individuals with chronic lymphocytic leukemia (CLL), the most frequent leukemia in adults in Western countries. We found 1,246 somatic mutations potentially affecting gene function and identified 78 genes with predicted functional alterations in more than one tumor sample. Among these genes, SF3B1, encoding a subunit of the spliceosomal U2 small nuclear ribonucleoprotein (snRNP), is somatically mutated in 9.7% of affected individuals. Further analysis in 279 individuals with CLL showed that SF3B1 mutations were associated with faster disease progression and poor overall survival. This work provides the first comprehensive catalog of somatic mutations in CLL with relevant clinical correlates and defines a large set of new genes that may drive the development of this common form of leukemia. The results reinforce the idea that targeting several well-known genetic pathways, including mRNA splicing, could be useful in the treatment of CLL and other malignancies.
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Cites
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Self-citationSomatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
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Self-citationEvolution and impact of subclonal mutations in chronic lymphocytic leukemia
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SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition
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Metadata
- Authors
- Quesada, V., Conde, L., Villamor, N., Ordóñez, G. R., Jares, P., Bassaganyas, L., Ramsay, A. J., Beà, S., Pinyol, M., Martínez-Trillos, A., López-Guerra, M., Colomer, D., Navarro, A., Baumann, T., Aymerich, M., Rozman, M., Delgado, J., Giné, E., Hernández, J. M., González-Díaz, M., Puente, D. A., Velasco, G., Freije, J. M. P., Tubío, J. M. C., Royo, R., Gelpí, J. L., Orozco, M., Pisano, D. G., Zamora, J., Vázquez, M., Valencia, A., Himmelbauer, H., Bayés, M., Heath, S., Gut, M., Gut, I., Estivill, X., López-Guillermo, A., Puente, X. S., Campo, E., & López-Otín, C.
- Venue
- Nature Genetics
- Published
- 2011-12-11
- Volume
- 44
- Issue
- 1
- Pages
- 47-52
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2031121711
- Cited by
- 996
- References
- 10
- FWCI
- 46.79
- Type
- journal article
- Language
- en
- Open access
- green
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- Quesada, V., Conde, L., Villamor, N., Ordóñez, G. R., Jares, P., Bassaganyas, L., Ramsay, A. J., Beà, S., Pinyol, M., Martínez-Trillos, A., López-Guerra, M., Colomer, D., Navarro, A., Baumann, T., Aymerich, M., Rozman, M., Delgado, J., Giné, E., Hernández, J. M., . . . López-Otín, C. (2012). Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nature Genetics. https://doi.org/10.1038/ng.1032
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